Canonical Allele Identifier: CA383546958

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6330598-C-A
• MyVariant Identifiers: chr12:g.6439764C>A (hg19) ; chr12:g.6330598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330598C>A , CM000674.2:g.6330598C>A	GRCh38
NC_000012.11:g.6439764C>A , CM000674.1:g.6439764C>A	GRCh37
NC_000012.10:g.6310025C>A	NCBI36
NG_007506.1:g.16498G>T , LRG_193:g.16498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1840G>T
ENST00000437813.8:c.*200G>T	ENSP00000513672.1:n.*200G>T
ENST00000440083.7:c.958G>T	ENSP00000413224.3:p.Val320Phe
ENST00000535038.2:n.921G>T
ENST00000535958.2:c.*566G>T	ENSP00000513673.1:n.*566G>T
ENST00000698337.1:n.729G>T
ENST00000698338.1:n.1153G>T
ENST00000698339.1:c.*234G>T	ENSP00000513670.1:n.*234G>T
ENST00000698340.1:c.665G>T	ENSP00000513671.1:p.Cys222Phe
ENST00000162749.7:c.739G>T MANE Select	ENSP00000162749.2:p.Val247Phe
ENST00000162749.6:c.739G>T	ENSP00000162749.2:p.Val247Phe
ENST00000534885.5:c.*216G>T	ENSP00000441803.1:n.*216G>T
ENST00000535038.1:n.550G>T
ENST00000536717.5:n.643G>T
ENST00000537842.5:n.343G>T
ENST00000539372.5:c.739G>T	ENSP00000442059.1:p.Gly247Cys
ENST00000540022.5:c.610G>T	ENSP00000438343.1:p.Val204Phe
ENST00000543359.5:n.151G>T
ENST00000543995.5:c.*326G>T	ENSP00000442405.1:n.*326G>T
NM_001065.3:c.739G>T , LRG_193t1:c.739G>T	NP_001056.1:p.Val247Phe
NM_001346091.1:c.415G>T	NP_001333020.1:p.Val139Phe
NM_001346092.1:c.280G>T	NP_001333021.1:p.Val94Phe
NR_144351.1:n.968G>T
NM_001065.4:c.739G>T MANE Select	NP_001056.1:p.Val247Phe
NM_001346091.2:c.415G>T	NP_001333020.1:p.Val139Phe
NM_001346092.2:c.280G>T	NP_001333021.1:p.Val94Phe
NR_144351.2:n.927G>T